日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.

结合临床、结构和细胞研究,可以区分致病性和良性 TRPV4 变异体

Berth Sarah H, Vo Linh, Kwon Do Hoon, Grider Tiffany, Damayanti Yasmine S, Kosmanopoulos Gage, Fox Andrew, Lau Alexander R, Carr Patrice, Donohue Jack K, Hoke Maya, Thomas Simone, Karam Chafic, Fay Alex J, Meltzer Ethan, Crawford Thomas O, Gaudet Rachelle, Shy Michael E, Hellmich Ute A, Lee Seok-Yong, Sumner Charlotte J, McCray Brett A

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

DEGS1 中的一种新型剪接位点变异导致异常剪接和 DEGS1 酶活性丧失,这是一个已解决的 VUS

Beale Holly C, Tse Victor, Lee Joanna Y, Akutagawa Jon, Mavura Yusuph, Saint-John Brandon, Cheney Allison, Mulligan Dennis R, Chacaltana Guillermo, Gutierrez Martin, Tenney Jessica, Shieh Joseph T, Martin Pierre-Marie, Yip Tiffany, Hodoglugil Ugur, Fay Alex J, Brooks Angela N, Van Ziffle Jessica, Stone Michael D, Risch Neil, Sanford Jeremy R, Devine Patrick, Saba Julie D, Vaske Olena M, Slavotinek Anne

Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons

利用磁共振引导将AAV2-AADC直接递送至中脑多巴胺能神经元,治疗芳香族L-氨基酸脱羧酶缺乏症的基因疗法

Pearson, Toni S; Gupta, Nalin; San Sebastian, Waldy; Imamura-Ching, Jill; Viehoever, Amy; Grijalvo-Perez, Ana; Fay, Alex J; Seth, Neha; Lundy, Shannon M; Seo, Youngho; Pampaloni, Miguel; Hyland, Keith; Smith, Erin; de Oliveira Barbosa, Gardenia; Heathcock, Jill C; Minnema, Amy; Lonser, Russell; Elder, J Bradley; Leonard, Jeffrey; Larson, Paul; Bankiewicz, Krystof S

Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab

贝伐珠单抗治疗伴有钙化和囊肿的脑白质病

Fay, Alex J; King, Allison A; Shimony, Joshua S; Crow, Yanick J; Brunstrom-Hernandez, Jan E

Microtubule plus-end-tracking proteins target gap junctions directly from the cell interior to adherens junctions.

微管正端追踪蛋白直接从细胞内部靶向间隙连接和粘附连接

Shaw Robin M, Fay Alex J, Puthenveedu Manojkumar A, von Zastrow Mark, Jan Yuh-Nung, Jan Lily Y